Genetic counselling protocols
This list was copied over from Handbook of Genetic Counseling The text provides an introduction to genetic counseling as a clinical practice and includes sample counseling outlines and letters for students of genetic counseling. Pleease add to the material if you can Introduction *Introduction *Counseling Methods *Counseling Theory Disorder Counseling Outlines 0-9 *1p36 Deletion Syndrome (outline 1) *1p36 Deletion Syndrome (outline 2) *18q Deletion Syndrome *22q11 Deletion Syndrome A *Abnormal Triple Screen and Family History of PKD *Achondroplasia (outline 1) *Achondroplasia (outline 2) *Acrofacial Dysostosis Syndrome *Advanced Maternal Age - Amniocentesis *Advanced Maternal Age - Chorionic Villus Sampling (CVS) (outline 1) *Advanced Maternal Age - Chorionic Villus Sampling (CVS) (outline 2) *Advanced Maternal Age - Chorionic Villus Sampling (CVS) (outline 3) *Allergies and Asthma *Alpha 1 Antitrypsin Deficiency *Alpha Thalassemia *Alport Syndrome *Amyotrophic Lateral Sclerosis *Androgen Insensitivity Syndrome *Anencephaly *Angelman Syndrome (outline 1) *Angelman Syndrome (outline 2) *AR Sensorineural Hearing Loss (DFNB1/Connexin 26) *Arthrogryposis *Autism (outline 1) *Autism (outline 2) *Autism (outline 3) B *Balanced Robertsonian Translocation *Balanced Translocation *Bardet-Biedl Syndrome (outline 1) *Bardet-Biedl Syndrome (outline 2) *Beal's Syndrome *Becker Muscular Dystrophy *Beckwith-Wiedemann Syndrome *Beta-Thalassemia *Bloom Syndrome (outline 1) *Bloom Syndrome (outline 2) *Breast Cancer - Ashkenazi Jew C *CADASIL *Canavan Disease: Heterozygote Screening *Cancer *Cerebral Palsy *CHARGE Association *Chondrodysplasia Punctata *Chorionic Villus Sampling (CVS) *Choroid Plexus Cysts on Ultrasound *Classical Myotonic Dystrophy *Cleft Lip and Palate *Cleft Lip - Isolated, Unilateral, Incomplete *Cleft Lip - Isolated, Unilateral, Incomplete (outline 1) *Cleft Lip - Isolated, Unilateral, Incomplete (outline 2) *Coffin-Lowry Syndrome *Colon Cancer Prophylactic Surgery *Colorectal Cancer Chemoprevention *Congenital Diaphragmatic Hernia *Cornelia de Lange Syndrome *Cowden Syndrome *Craniosynostosis (outline 1) *Craniosynostosis (outline 2) *Cri-du-chat syndrome - deletion 5p *Cystic Fibrosis Carrier Screening (outline 1) *Cystic Fibrosis Carrier Screening (outline 2) *Cystic Fibrosis - Prenatal Diagnosis (outline 1) *Cystic Fibrosis - Prenatal Diagnosis (outline 2) D *Developmental Delay and Mental Retardation (outline 1) *Developmental Delay and Mental Retardation (outline 2) *Diabetes in Pregnancy *Diabetes Mellitus *Diabetic Embryopathy *Down Syndrome - Trisomy 21 (outline 1) *Down Syndrome - Trisomy 21 (outline 2) *Duchenne Muscular Dystrophy (outline 1) *Duchenne Muscular Dystrophy (outline 2) *Dysmorphic Features - Developmental Delay *Dysmorphic Features - Hypotonia E *Echogenic Bowel *Ehlers-Danlos Syndrome *Ehlers-Danlos Syndrome (outline 2) *Ehlers-Danlos Syndrome (outline 3) *Epilepsy and Seizures *Ewing's Sarcoma F *Fabry Disease *Familial Adenomatous Polyposis (outline 1) *Familial Adenomatous Polyposis (outline 2) *Fanconi Anemia *Fetal Alcohol Syndrome *Fetal Hydantoin Syndrome *Fetal Dilantin-Keppra Syndrome *Fetal Valproate Syndrome *FG Syndrome *FG Syndrome (outline 2) *First Trimester Screening *Fragile X Syndrome *Friedreich Ataxia *Frontonasal Dysplasia - Median Cleft Face Syndrome G *Galactosemia (outline 1) *Galactosemia (outline 2) *Gastroschisis *Gaucher Disease (outline 1) *Gaucher Disease (outline 2) *Gaucher Disease (outline 3) *Genes and Chromosomes *Gorlin - Nevoid Basal Cell Carcinoma Syndrome H *Hearing loss - Unknown Cause *Heart Defects - Isolated *Hemifacial Microsomia *Hemoglobin C *Hemoglobinopathy Screening and Hemoglobin D-Punjab *Hemophilia and Von Willebrand Disease *Hereditary Breast Cancer - BRCA1 and BRCA2 *Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) and Lobular Carcinoma In Situ (LCIS) *Hereditary Nonpolyposis Colorectal Cancer (HNPCC) *Holoprosencephaly *Huntington Disease *Hyper-extensibility *Hypoplasia - Agenesis of the Corpus Callosum *Hypotonia - Developmental Delay I *IgA Nephropathy *Incontinence *Infertility J K *Keratoconus *Klinefelter Syndrome L * Lhermitte-Duclos disease *Lupron Exposure M *Marfan Syndrome *Maternal Serum Triple Screen (outline 1) *Maternal Serum Triple Screen (outline 2) *McCune Albright Syndrome *Medium-chain acyl-coenzyme A dehydrogenase Deficiency *Microcephaly *Miller Syndrome *Mosaic trisomy 21 - Transient Myleoproliferative Syndrome *Mucopolysacharidosis (MPS) *Multiple Pregnancy Loss N *Nager Syndrome *Neural Tube Defects *Neurofibromatosis - Type 1 (outline 1) *Neurofibromatosis - Type 1 (outline 2) *Neurofibromatosis - Type 1 (outline 2) *Neurofibromatosis - Type 2 *Niemann-Pick Disease (outline 1) *Niemann-Pick Disease (outline 2) *Noonan Syndrome O *Oculo-Auriculo-Vertebral Spectrum *Opitz BBB - G Syndrome *Oral-Facial-Digital Syndrome - Type 1 *Osteogenesis Imperfecta (OI) *Osteosarcoma and Li-Fraumeni Syndrome *Ovarian Cancer P *Pallister-Killian Syndrome *Pancreatic Cancer *Partial Trisomy 11q (q14-q21) *Percutaneous Umbilical Blood Sampling (PUBS) *Phenylketonuria (PKU) *Pierre Robin Sequence - Cleft Palate *Pituitary Tumor *Polycystic Kidney Disease *Polydactyly and Syndactyly *Prader-Willi Syndrome - Prenatal *Prader-Willi Syndrome (outline 2) *Protein S Deficiency Q R *Reciprocal Translocation *Renal Cell Carcinoma *Retinoblastoma *Rett Syndrome *Ring Chromosome 22 *Robin Sequence *Russell Silver Syndrome S *Smith-Magenis syndrome (SMS) *Sanfilippo syndrome *Scheie Syndrome *Seizure Medications *Septo-optic dysplasia *Short Chain Acyl-CoA Dehydrogenase (SCAD) *Short Stature *Sickle Cell Anemia *Smith-Lemli-Opitz Syndrome *Sotos Syndrome *Spina Bifida *Spinal Muscular Atrophy (SMA1) *Spontaneous Pregnancy Loss and X-chromosome Inactivation *Stickler Syndrome T *Tamoxifen - Selective Estrogen Response Modifiers (SERMS) *Tay-Sachs Disease *Treacher Collins *Trisomy 13 *Trisomy 13 - Advanced Maternal Age - Occupational Exposures *Trisomy 18 *Tuberous Sclerosis (outline 1) *Tuberous Sclerosis (outline 2) *Turner Syndrome (outline 1) *Turner Syndrome (outline 2) U V *VATER Association *Van Der Woude syndrome *Velo-Cardio-Facial Syndrome (VCF) *Velopharyngeal Inadequacy (VPI) *Vitamin C Deficiency *Von Gierkes Disease (Glycogen Storage Disease Type I) *Von Hippel-Lindau Syndrome W *Waardenburg Syndrome X *XXX Syndrome Y Z *Zellweger Syndrome Sample Counseling Letters Useful Resources *Wikipedia's list of genetic disorders *Gene Clinics *OMIM Directory Copyright Much of the information for this book was originally located at http://www.genesoc.com/counseling2 . That website is now defunct and the information and content from that site is being relocated here. --Exmoron 20:47, 29 November 2005 (UTC)